<p> Achondroplasia & Other Conditions of Short Stature An Introduction to: Contributors Achondroplasia & Other Conditions of Short Stature</p><p>This pamphlet was reviewed by medical representatives from the following organizations:</p><p>Michigan Department Of Community Health Hospital</p><p>Special Care for Special Kids Special Care For Special Kids First Edition 2004 Created by: Michigan Department of Community Health Birth Defects Follow-up Program</p><p>1 Achondroplasia & Other Conditions of Short Table of Contents: Stature Achondroplasia & Other Conditions of Short Stature</p><p>This resource packet for children and families affected by I. Introduction significant short stature was created as a source of a. What are medical conditions of short information and support. It will hopefully aid in the care and stature? support for a child with significant short stature. II. Overview of Certain Types of Skeletal Dysplasias</p><p>III. Glossary</p><p>IV. Things to Consider for the Child with Short Stature</p><p>V. Quick Check: Health Issues Worksheet a. Achondroplasia b. Diastrophic Dysplasia c. Ellis van-Crevald d. Fanconi Anemia Disclaimer: Each special child is unique, thus the care they e. Hypochondroplasia require may differ. This pamphlet reviews care often needed f. Osteogenesis Imperfecta by special children with significant short stature. Each child may need unique treatment, may respond differently to VI. Resources for my Family treatment and have unique family and support systems. This pamphlet cannot replace the care and specific VII. References recommendations for your special child given by his/her own doctors.</p><p>2 I. Introduction What are Medical Conditions of Short Stature? Etiology Most skeletal dysplasias are genetic problems. Many different abnormal genes cause different types of skeletal dysplasias. Children may never reach a normal adult height for many Some bone problems may arise for the first time in an affected reasons. Family history, ethnic background and untreated child. These occur due to a new mutation, or change, in that medical problems may all play a role in a child’s final adult child’s genes. Other times a child is born with a skeletal height. Short stature can also be caused by a skeletal dysplasia. dysplasia because the abnormal gene was inherited from one or A skeletal dysplasia is a syndrome affecting the size and shape both parents. The parent may be affected with the same type of of the bones and skull. bone problem. Sometimes both parents may be unaffected, but carry a trait for the bone problem. If both pass the trait to a child, Over 200 forms of skeletal dysplasias exist. Most cause unique the child will be affected. Section II reviews in more detail the traits and adult height to be about 4 feet 10 inches or less. types of skeletal dysplasias and how they arise in a child. Some people with a skeletal dysplasia may be slightly taller. They will usually still have other signs of the bone problem. Prognosis (Future Outlook) The prognosis for a child with a skeletal dysplasia will depend on Dwarfism is another medical term used to describe skeletal the type of problem present. Many people lead full normal lives. dysplasias. The term “midget” exists. This word is offensive. It Others can face significant obstacles and health problems due to should not be used to describe persons of short stature. their condition. Care needs for a child will be very specific to the type of skeletal dysplasia. Your child’s clinical geneticist, genetic A skeletal dysplasia may affect only the size or shape of a counselor and other doctors will be able to help you prepare and person’s bones and skull. In other cases it may cause health learn about any possible medical and physical obstacles your problems for a person. Mental retardation is common in some child may face. forms of skeletal dysplasias. A person should never be considered mentally impaired based on height alone. </p><p>A clinical geneticist and radiologist will be able to diagnose most forms of skeletal dysplasias. They may use tools such as physical exams or X-rays. Signs of a bone problem may be present before a child is born. The specific type of problem may not be diagnosed until after birth when special testing can be performed. Some forms of skeletal dysplasias do not show any signs until after birth. </p><p>3 II. Overview of Certain Types of Skeletal Disorders</p><p>Achondroplasia Ellis van-Crevald syndrome (Chondroectodermal dysplasia) Description Description Short arms and legs with normal torso Short stature with onset prior to birth Large head with prominent forehead Disproportionate short arms & legs Flat nose between the eyes Polydactyly Markedly curved lower spine Small thorax Normal intelligence expected Hypoplastic nails 50% have heart defects Inheritance ~50% expire in early infancy Autosomal dominant Survivors usually of normal intellect Chromosome #4 Dental problems common FGFR3 gene Mutation found in all with Achondroplasia Inheritance Autosomal recessive Diastrophic Dysplasia Chromosome #4 Description Short stature with onset prior to birth Fanconi syndrome Club feet Description Joint malformation/ “Hitch-hiker thumb” Short stature often prior to birth Short tubular bones Small head and mental retardation in ~25% Soft mass in outer ear develops into cartilage Abnormalities of the thumb 25% expire in infancy Small to absent radius bones Survivors usually do quite well Small and/or malformed kidneys Normal intelligence expected Pancytopenia Brownish color to skin Inheritance Autosomal recessive Inheritance Chromosome #5 Autosomal recessive DTDST gene Chromosome breakage observed</p><p>4 II. Overview of Certain Types of Skeletal Disorders (cont.)</p><p>Osteogenesis Imperfecta (Types I, II, III, IV) Hypochondroplasia Inheritance Description Autosomal dominant Short stature usually after birth Short limbs Narrowing of spine Near-normal facial features Mental impairment possible</p><p>Inheritance Autosomal dominant Chromosome #4</p><p>Osteogenesis Imperfecta (Type I, III, IV) Description Short stature: Onset prenatal vs. after birth Fragile bones Prone to multiple muscle fractures Blue sclera (whites of eyes) excluding Type IV Possible hearing loss Possible dental problems</p><p>Osteogenesis Imperfecta (Type II) Description Words found in green are defined in the proceeding glossary. Short stature prior to birth Fragile bones: many fractures present at birth Beaded ribs seen due to fractures Limited survival after birth</p><p>5 III. Glossary Achondroplasia & Other Conditions of Short Stature Dysplasia Abnormal development.</p><p>Hypoplastic/ Hypoplasia Something that is Asymmetric Sides of the body are not in proportion. underdeveloped. One side may be longer/larger or shorter/smaller than the other. Hypotonia Muscle weakness, low muscle tone. Autosomal dominant A pattern of inheritance in which one gene from a pair does not work properly. Iliac spurs A projecting body of bone in the The effects of the non-working gene are area of the pelvis. seen as symptoms of the disorder. An affected parent has a 50% (1 in 2) chance Mutation Abnormality within a gene of passing the gene to a child who would causing also be affected. The non-working gene it to not work properly. may arise for the first time in a child. Pancytopenia Abnormal depression of all Autosomal recessive A pattern of inheritance in which both cellular genes from a pair do not work properly. elements of the blood. The effects of the non-working genes are seen as symptoms of the disorder. Polydactyly Extra fingers or toes. Parents of an affected child are healthy non-symptomatic carriers. When both Punctate Mineralization Spotty deposits of minerals in the parents are carriers, the chance of having bone. an affected child with each pregnancy is 25% (1 in 4). Radius Shorter bone of the forearm.</p><p>Club foot Abnormally positioned foot. Shape of Scoliosis Abnormal curvature of the spine. foot often normal but positioned One shoulder may be higher than incorrectly. May be corrected by bracing the other. or surgery. Thorax Chest.</p><p>6 a. Adaptive changes can be made to many homes to Torso One’s body without taking into make them accessible for the person of shorter account the head or limbs. stature. b. Reaching aids are available.</p><p>IV. Things to Consider for the Child with Short Stature c. Your doctor and national organizations may provide Achondroplasia & Other Conditions of Short Stature valuable information about making home and workplace accessible as well as the tools available to you or your child.</p><p>1. Teasing 4. Sports limitations a. Teasing often comes from ignorance and a. Stature may limit participation in some but not all misunderstanding. sports activities. b. View teasing as a chance to educate a person. b. Allow your child to explore the sports in which c. Remind your child that every person has differences. he/she has interest. All people are unique. Some children don’t c. Competitive sports may be limited but physical understand certain differences as well as others. activity usually is not. True friends look past differences. (Always follow your doctor’s specific d. It is sometimes difficult to see the good in people. recommendations) Recognizing it in yourself will help you to deal with others who are not as nice. 5. Clothing e. People come in all shapes and sizes. A person’s a. It may be difficult to find appropriate age and sized shape does not determine who that person is or will clothing. become. b. National organizations and support groups may assist in recommendations. 2. Misjudging one’s age a. Remind others that height does not indicate one’s age. b. Age, not height, should be the basis for how a child is treated.</p><p>3. Limited reach</p><p>7 _____ Watch for obstructive sleep apnea</p><p>V. Quick Check: Health Issues Worksheet Medical Conditions of Short Stature</p><p>Achondroplasia</p><p>Infancy _____ Confirm diagnosis by radiographic studies _____ Assess speech development</p><p>_____ Assess for signs of hydrocephalus _____ Obtain any assistive devices to help with daily living</p><p>_____ Follow growth/head size/development</p><p>_____ Watch for obstructive sleep apnea Adulthood _____ Genetic counseling regarding future children _____ Avoid walkers, jumpers, backpack carriers _____ Learn and watch for symptoms of nerve compression</p><p>_____ Discuss weight and height Childhood _____ Assess growth/development _____ Psychological counseling if needed</p><p>_____ Continue to follow head growth</p><p>_____ Consult orthopedic surgeon if bowed legs interfere with walking</p><p>8 _____ Consult orthopedic surgeon for joint dislocations</p><p>_____ Assess and treat development of scoliosis</p><p>V. Quick Check: Health Issues Worksheet Medical Conditions of Short Stature</p><p>Diastrophic Dysplasia</p><p>Infancy Adulthood _____ Confirm diagnosis by radiographic studies _____ Genetic counseling regarding future children</p><p>_____ Consult with Neonatologist & any follow-up studies to ensure _____ Discuss weight and height normal respirations (breathing) _____ Psychological counseling if needed _____ Treatment of soft tissue mass in outer ear</p><p>_____ Consult with Orthopedic surgeon if club feet present</p><p>_____ Follow growth/development</p><p>Childhood _____ Assess growth/development</p><p>_____ Obtain any assistive devices to help with daily living</p><p>9 _____ Obtain any assistive devices to help with daily living</p><p>_____ Consult dentist for any dental problems</p><p>V. Quick Check: Health Issues Worksheet Medical Conditions of Short Stature</p><p>Ellis van-Crevald syndrome</p><p>Infancy Adulthood _____ Confirm diagnosis by radiographic studies _____ Genetic counseling regarding future children</p><p>_____ Consult with Neonatologist & any follow-up studies to ensure _____ Discuss weight and height normal respirations (breathing) _____ Psychological counseling if needed _____ Consult with Cardiologist on detecting/repairing any heart defects _____ Provide support information</p><p>_____ Consult with Orthopedic surgeon for polydactyly See Section VI. for general support information</p><p>_____ Follow growth/development</p><p>Childhood _____ Assess growth and development</p><p>10 _____ Monitor pubertal development</p><p>_____ Consult with Endocrinologist</p><p>V. Quick Check: Health Issues Worksheet Medical Conditions of Short Stature Adulthood _____ Genetic counseling regarding future children Fanconi syndrome _____ Discuss cancer prevention with doctor Infancy _____ Confirm diagnosis by radiographic & laboratory studies _____ Yearly: gynecological & rectal exams, esophageal endoscopy, dental exam _____ Ultrasound exam of kidneys & urinary tract _____ Discuss with doctor: androgen/growth hormone _____ Hearing exam administration, bone marrow transplant</p><p>_____ Consult with hematologist _____ Provide support group information _____ Follow growth/development Fanconi Anemia Research Fund, Inc (FARF) 800-828-4891 Childhood www.fanconi.org _____ Assess growth/development International Fanconi Anemia Registry (IFAR) _____ Continue to monitor hearing IFAR</p><p>_____ Continue follow-up studies with Hematologist See Section VI. for general support information</p><p>11 walking</p><p>_____ Watch for obstructive sleep apnea</p><p>V. Quick Check: Health Issues Worksheet Medical Conditions of Short Stature</p><p>_____ Assess speech development Hypochondroplasia _____ Obtain any assistive devices to help with daily living Infancy _____ Confirm diagnosis by radiographic studies</p><p>_____ Assess for signs of hydrocephalus Adulthood _____ Genetic counseling regarding future children _____ Follow growth/head size/development _____ Learn and watch for symptoms of nerve _____ Watch for obstructive sleep apnea compression</p><p>_____ Avoid walkers, jumpers, backpack carriers _____ Discuss weight and height _____ Psychological counseling if needed</p><p>Childhood _____ Provide support information _____ Assess growth/development See Section VI. for general support information _____ Continue to follow head growth</p><p>_____ Consult orthopedic surgeon if bowed legs interfere with </p><p>12 _____ Occupational therapy if needed</p><p>_____ Dental exam with possible treatment for dentinogenesis imperfecta V. Quick Check: Health Issues Worksheet Medical Conditions of Short Stature _____ Safe physical exercises to socialize and keep weight down</p><p>Osteogenesis Imperfecta Types I, III and IV</p><p>Infancy Adolescence/Adulthood _____ Confirm diagnosis by radiographic & laboratory studies _____ Genetic counseling regarding future children</p><p>_____ Hearing exam _____ Orthopedic treatments: surgical placement of rods possible, treatment of deformities resulting from _____ Begin physical therapy if motor delays recognized fractures, treatment of scoliosis</p><p>_____ Follow growth/development _____ Discuss with doctor: biophosphonate drugs, growth hormone & other research therapies _____ Never push, pull, bend limb into awkward position _____ Use of crutches, braces, cane, walker or wheelchair as needed</p><p>Childhood _____ Provide support information _____ Assess growth/development Osteogensis Imperfecta Foundation _____ Continue to monitor hearing 800-981-2663 www.oif.org _____ Continue physical therapy</p><p>13 Children’s Brittle Bone Foundation Little People of America 866-694-2223 P.O. Box 65030 www.cbbf.org Lubbock, TX 79464-5030 888-LPA-2001 See Section VI. for general support information www.lopaonline.org Locate any local support group chapters.</p><p>VI. Resources for my Family March of Dimes Achondroplasia & Other Conditions of Short Achondroplasia Fact Sheet Stature www.modimes.org Products Magic Foundation www.magicfoundation.org/default.htm Billy Barty Foundation 929 W Olive Ave., Ste. C Michigan Birth Defects Registry Follow-up Program: Support Burbank, CA 91506 Group “manual” 818-953-5410 [email protected] Multiple products www.migeneticsconnection.org Danny Black 800- 1295 Stoll Road 517-335-8887 DeWitt, MI 48820 517-371-2225 Research/Diagnosis/Information [email protected] European Skeletal Dysplasia Network www.dwarfism.org www.esdn.org/research.html Exhaustive resource page www.dwarfism.org/dwarfstore.php Skeletal dysplasia clinic Multiple products: clothing, Cedars-Sinai Medical Center adaptive, automotive, furniture, 8700 Beverly Blvd., North Tower, Fourth Floor mobility, health, toys Los Angeles, CA 90048 1-800-CEDARS-1 Support/Information www.csmc.edu/pediatrics/2481.asp</p><p>14 VI. References Achondroplasia & Other Conditions of Short Stature</p><p>“Achondroplasia”. [October 1997] March of Dimes. Retrieved May 01, 2003. http://www.modimes.org/healthLibrary2/factsheets/Achondroplasia.htm</p><p>Centerwall, W., S. Centerwall. [1986] An Introduction to Your Child Who Has Achondroplasia. Light for the Way, Inc.</p><p>GeneReviews Achondroplasia. C. Francomano. National Institutes of Health. Retrieved May 1, 2003. http://www.genetests.org</p><p>GeneReviews Hypochonroplasia. G. Bellus, T. Kelly, A. Aylsworth. National Institutes of Health. Retrieved May 1, 2003. http://www.genetests.org</p><p>GeneReviews Fanconi Anemia. A. Shimamura, L Moreau, A. D’Andrea, Dana Farber Cancer Institute. National Institutes of Health. Retrieved May 1, 2003. http://www.genetests.org</p><p>GeneReviews Achondroplasia. C. Francomano. National Institutes of Health. Retrieved May 1, 2003. http://www.genetests.org</p><p>Jones, K. [1997] Smith’s Recognizable Patterns of Human Malformation. Fifth Edition. W.B. Saunders Company.</p><p>“LPA Online” Little People of America Retrieved May o1, 2003. http://www.lpaonline.org/lpa_contacts.html</p><p>15</p>